A doctor performs a genetic test.
A genetic test could provide a little more peace of mind for those worried about family history. (For Spectrum Health Beat)

Worried that your family history could lead you into cancer’s grip?

There’s a fairly new genetic testing system you can participate in to find out if you’re at risk.

California-based Color Genomics does not accept insurance, but charges $249 for a 30-gene panel, including BRCA1 and BRCA2, common high-risk breast cancer genes. The company gathers results from your saliva, although in the future it could also test blood.

Judy Hiemenga, MD, a cancer genetics specialist with Spectrum Health, said the test can be beneficial for some patients, whether to check a high-risk family history or to just alleviate worry.

She recently sat down with Health Beat to discuss the details of the $249 genetic test.

Q: What are the reasons for doing gene testing?

A: People decide to do gene testing perhaps first to explain why they have a particular cancer diagnosis or why certain relatives have been affected by cancer. The process moves quickly on to how might testing change my decision and my doctor’s for surgery or treatment such as chemotherapy. When testing finds an inherited gene mutation, it also can give a “heads up” for risk of other cancers or health issues in the patient having testing. Finally, identification of a gene mutation in one person can, through family testing, identify other relatives who share the increased risks for cancer. It also can identify those in the family who don’t have a high risk because they did not happen to inherit the family gene mutation.

Q:  What are the reasons I might use Color?       

A: Insurance companies have specific criteria to pay for genetic testing. Patients and families who have a high deductible and those who might not meet insurance criteria for testing may elect to test through Color. More often, if people are testing through Color, they’re less likely to have cancer, but they may have concerns or a family history of cancer. This test is offered because the company and researchers behind it believe everyone should have the option for genetic testing. We may at some point in the future offer genetic testing to everyone.

Q: Is there a target age group?

A: Genetic counseling and testing is most appropriate for individuals 18 to 25 years of age or older. There are occasions that children are tested. To evaluate a family, testing a person who has been affected by cancer is the best approach.

Q: What should you do if you learn you have a gene mutation or are at high risk for cancer?

A: We individually counsel each person for high-risk cancer monitoring, risk-reducing measures including lifestyle changes, and discuss risk-reducing surgery based on the particular condition identified in the family. We suggest they maintain a relationship with their primary care physician and add health specialists as needed (with assistance and referrals by their physician).

Q: How does this testing differ from more traditional testing that is covered by insurance?

A: It’s the same testing. This lab has been doing testing for more than two years. Other labs that take commercial insurance have been around for several years to more than a decade. Color Genomics came out and said we’ll do the same as other labs but we’re not going to charge as much. They test 30 genes that we know are high risk for breast cancer, ovarian cancer, and they include several of the high-risk colon cancer genes. 

Q: How prevalent is genetic-related cancer?

A: Only 5 or 10 percent of cancers are caused by inherited gene mutations. Most are caused by later damage to some of the same genes but occur randomly throughout our life. Some cancers are caused by mutations in genes that we don’t yet know; others are caused by the actions of perhaps several poorly functioning genes along with environmental factors.

Q: How helpful is this?

Finding a gene mutation may explain personal or family cancer histories. Decisions in treatment, both surgical or chemotherapy, may vary based on the presence of an inherited gene mutation. Identifying a family gene mutation allows a “heads-up warning” for other family members who share the gene mutation. It can give an “all clear” reassurance to some in high-risk families who have been found to test negative for their family’s high-risk gene mutation.

Q: Do men do this, too?

A: Yes, men can also carry cancer-predisposing gene mutations. If someone is found to carry a cancer-causing gene mutation, their siblings each have a 50 percent chance to share the mutation. The mutation would have been passed down to them through their mother or father. Aunts, uncles, and cousins might also share the family mutation. Each child would have a 50 percent chance to inherit a gene mutation from their parent.

Q: Do you recommend this often?

A: We often suggest this for patients who will not have their testing covered by insurance or those with larger co-pays.

Q: Have you seen this test potentially save lives?

A: Yes, knowing that you have a higher risk for a certain cancer or cancers allows for high-risk monitoring, use of risk-reducing medications, and opens the option for risk-reducing surgeries.

Q: How many of your patients have had this done?

A: I’d say several dozen.

Q: How many tested positive?

A: Less than a dozen. We don’t routinely order high-risk testing through this company. Individuals without a past cancer diagnosis covered by medical insurance may elect to test through Color because of the lower cost.

Q: Do they do the test at home?

A: They can do it in the office; they can do it at home. An order is faxed by our office to Color. Color emails the patient with a special code provided by Color. The patient pays for the test online and enters their code. They are mailed a test kit. After they collect their saliva specimen, the kit is returned. Results are reported via email back to the patient and our office at the same time.

Q: How long does the process take?

A: Testing takes four to eight weeks. In the distant past, testing potentially took years for each gene. Things have radically changed, just since the early 2000s.

Q: What should you do if you learn you have a gene mutation or are at high risk for cancer?

A: We counsel each person for high-risk monitoring, risk-reducing measures, and discuss risk-reducing surgery based on the particular condition identified in the family.